Results 311 to 320 of about 645,043 (338)

Neuron-specific repression of alternative splicing by the conserved CELF protein UNC-75 in Caenorhabditis elegans. [PDF]

Genetics
Pilaka-Akella P, Sadek NH, Fusca D, Cutter AD, Calarco JA.   +4 more
europepmc   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Long‐Read Whole‐Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Synpolydactyly (SPD) is a heterogeneous distal‐limb malformation syndrome, characterized by webbing and duplication of adjacent digits. SPD1, the most common type, is attributed to disease‐causing variants in HOXD13, a transcription factor in the HOXD cluster that is essential for limb development. Here, we present a challenging exome‐negative
Jonathan Rips, Rivka Birnbaum, Chaim Jalas, Ayala Frumkin, Shamir Zenvirt, Julia Rachanaev, Avraham Shaag, Tamar Harel, Orly Elpeleg, Hagar Mor‐Shaked   +9 more
wiley   +1 more source

Blood RNA-seq in rare disease diagnostics: a comparative study of cases with and without candidate variants. [PDF]

J Transl Med
Luo X, Xiao B, Liang L, Zhang K, Xu T, Liu H, Liu Y, Yu Y, Fan Y.   +8 more
europepmc   +1 more source

A Splice‐Region Variant Causes an Atypical Presentation of GNAS Inactivation Disorder

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in GNAS can cause a wide range of diseases including pseudohypoparathyroidism, pseudopseudohypoparathyroidism, McCune‐Albright syndrome, among others. The specific phenotypic features that may be seen are influenced by the variant type and location in the gene, whether it causes loss or gain of function, and whether it is ...
Brandon S. Stone, Swetha Ramadesikan, Regan McGinley, Scott E. Hickey, Leeran B. Dublin‐Ryan, Steven I. Estes, Victoria A. Elliott, Benjamin Karabasz, Jesse M. Hunter, Bimal P. Chaudhari, Richard K. Wilson, Daniel C. Koboldt   +11 more
wiley   +1 more source

Resolving the Diagnostic Odyssey in Inherited Retinal Dystrophies Through Long‐Read Genome Sequencing

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Inherited retinal dystrophies (IRDs) inherited are visually disabling monogenic diseases with remarkable genetic and phenotypic heterogeneity. Mutations in more than 300 different genes have been identified as disease‐causing. The genetic diagnosis of IRDs has significantly advanced with the integration of Next Generation Sequencing (NGS ...
Gerardo E. Fabian‐Morales, Vianey Ordoñez‐Labastida, William J. Rowell, Christine Lambert, Cairbre Fanslow, Alexander Robertson, Juan C. Zenteno   +6 more
wiley   +1 more source

Computational Comparison of Differential Splicing Tools for Targeted RNA Long-Amplicon Sequencing (rLAS). [PDF]

Int J Mol Sci
Ura H, Hatanaka H, Togi S, Niida Y.
europepmc   +1 more source

Exon 1 deletion of the androgen receptor gene causing complete androgen insensitivity syndrome in a newborn: a case report. [PDF]

Front Pediatr
Wang S, Zhang YT, Wang F.
europepmc   +1 more source

Genomics Review of Selective RET Inhibitors Sensitivity in Thyroid Cancer Clinical Trials

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT RET gene is a driver of thyroid cancer (TC) tumorigenesis. The incidence of TC has increased worldwide in the last few decades, both in medullary and follicular‐derived subtypes. Several drugs, including multikinase and selective inhibitors, have been explored.
Sara Gil‐Bernabé, Lucía García‐DeLaFuente, Alejandro García‐Álvarez, Ginesa García‐Rostán, Jaume Capdevila, Jorge Hernando   +5 more
wiley   +1 more source

Genetic insights and prospects of Egyptian- Nubian (Zaraibi) goats. [PDF]

Trop Anim Health Prod
Aboul-Naga AM, Abdel-Shafy H, Mohamed SA, Ahmed RM.   +3 more
europepmc   +1 more source